Variant report

Variant	rs2967388
Chromosome Location	chr16:82226918-82226919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr16:82226137-82227345	HUVEC	blood vessel:	n/a	chr16:82227050-82227066 chr16:82227052-82227064 chr16:82227053-82227062
2	GATA3	chr16:82226526-82227215	T-47D	breast:	n/a	chr16:82227050-82227066 chr16:82227052-82227064 chr16:82227053-82227062
3	MAX	chr16:82226150-82227125	NB4	blood:	n/a	n/a
4	GATA3	chr16:82226570-82227221	T-47D	breast:	n/a	chr16:82227050-82227066 chr16:82227052-82227064 chr16:82227053-82227062

Variant related genes	Relation type
RN7SKP190	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11862388	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1364288	0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1424152	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1424158	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16956683	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1979649	1.00[CHB][hapmap];0.90[CHD][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1979650	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1979652	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1979653	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2042425	0.87[EUR][1000 genomes]
rs2042426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317884	0.87[MEX][hapmap]
rs2911410	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2911411	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2911413	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2911416	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2932814	1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2932817	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2932818	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2932836	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2932837	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2932839	0.83[AMR][1000 genomes]
rs2932840	0.85[AMR][1000 genomes]
rs2967338	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2967339	1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2967340	1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2967341	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2967345	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2967346	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2967347	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2967348	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2967391	0.93[ASW][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2967393	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2967394	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2967395	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2967398	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2967399	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2967410	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34629110	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4516225	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57676882	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66765750	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs67779658	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs71388379	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7192520	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7500585	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7500862	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8049396	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs902542	0.90[CHB][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs902543	0.83[AMR][1000 genomes]
rs929892	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9708960	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9745812	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9932036	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9940988	0.81[ASN][1000 genomes]
rs9941073	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv518129	chr16:82188173-82228076	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv833302	chr16:82188351-82363863	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1844598	chr16:82195234-82429790	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv1847414	chr16:82195234-82429790	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv532600	chr16:82197554-82314289	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv907015	chr16:82203758-82284056	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1065896	chr16:82213517-82731994	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2967388	MPHOSPH6	cis	lymphoblastoid	seeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82223000-82231400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr16:82224800-82228800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr16:82225800-82227200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr16:82225800-82227400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:82225800-82227400	Enhancers	NHEK	skin
6	chr16:82226000-82227000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr16:82226000-82227200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr16:82226000-82227200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr16:82226000-82227200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:82226000-82227200	Enhancers	Dnd41	blood
11	chr16:82226000-82227400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:82226000-82227400	Enhancers	HMEC	breast
13	chr16:82226000-82227400	Enhancers	HUVEC	blood vessel
14	chr16:82226000-82227400	Enhancers	NHDF-Ad	bronchial
15	chr16:82226000-82227600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:82226200-82227000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr16:82226200-82227000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr16:82226200-82227000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr16:82226200-82227000	Enhancers	Osteobl	bone
20	chr16:82226200-82227200	Enhancers	NHLF	lung
21	chr16:82226200-82227400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:82226200-82227600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:82226400-82227000	Enhancers	Primary T cells from cord blood	blood
24	chr16:82226600-82228200	Weak transcription	Fetal Kidney	kidney

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